DOI:10.29111/ijlrst ISRA Impact Factor:3.35, Peer-reviewed, Open-access Journal
Research Paper Open Access
International Journal of Latest Research in Science and Technology Vol.5 Issue 1, pp 111-114,Year 2016
Correspondence should be addressed to :
Received : 16 February 2016; Accepted : 22 February 2016 ; Published : 29 February 2016
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The most common type of scoliosis, idiopathic scoliosis (IS), has no specific identifiable cause. For the aims of the current case-control study we selected the functional polymorphisms: ACE (I/D) and ACTN3 (R577X) trying to investigate the association between these candidate-genes and susceptibility to and progression of IS among Bulgarian patients. The ACE polymorphism was genotyped by direct amplification and the ACTN3 polymorphism was genotyped by amplification followed by restriction. The statistical analysis was performed by Pearson's chi-squared test to make genotype and allele comparisons between cases and controls as well as test for Hardy-Weinberg equilibrium. A value of p < 0.05 was considered to be statistically significant for comparison between data sets. The results of the statistical analysis in this study indicated that the ACE and ACTN3 polymorphisms were not associated with susceptibility to IS, curve severity, onset of the disease, familial history or gender. On the basis of these results the examined polymorphic variants could not be considered as genetic variants with predisposing or modifying effect in Bulgarian population. Replication case-control studies will be needed to examine the association between these candidate-genes and IS in different populations. The identification of molecular markers for IS could be useful for early detection and prognosis of the risk for a rapid progression of the curve. That would permit early stage treatment of the patient with the least invasive procedures.
Copyright © 2016 Svetla Nikolova et al. This is an open access article distributed under the Creative Commons Attribution 4.0 International (CC BY 4.0) license which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Svetla Nikolova, MD, PhD Vasil Yablanski, MD, PhD, Evgeni Vlaev, MD , " Association Study Between Idiopathic Scoliosis And Functionalpolymorphisms Of Ace And Actn3 Genes ", International Journal of Latest Research in Science and Technology . Vol. 5, Issue 1, pp 111-114 , 2016
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